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Items: 1 to 20 of 923

1.

rs1490468788 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    11:5884438 (GRCh38)
    11:5905668 (GRCh37)
    Canonical SPDI:
    NC_000011.10:5884437:T:A,NC_000011.10:5884437:T:C
    Gene:
    OR52E4 (Varview), LOC112268071 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    C=0.000035/1 (TOMMO)
    HGVS:
    2.

    rs1489005355 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      T>C
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1488784808 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        11:5885104 (GRCh38)
        11:5906334 (GRCh37)
        Canonical SPDI:
        NC_000011.10:5885103:A:G
        Gene:
        OR52E4 (Varview), LOC112268071 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (GnomAD_exomes)
        G=0.000014/2 (GnomAD)
        G=0.000019/5 (TOPMED)
        HGVS:
        4.

        rs1488714093 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:5883273 (GRCh38)
          11:5904503 (GRCh37)
          Canonical SPDI:
          NC_000011.10:5883272:A:G
          Gene:
          OR52E4 (Varview), LOC112268071 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1488337976 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            11:5884877 (GRCh38)
            11:5906107 (GRCh37)
            Canonical SPDI:
            NC_000011.10:5884876:G:A,NC_000011.10:5884876:G:T
            Gene:
            OR52E4 (Varview), LOC112268071 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant,synonymous_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            A=0.000035/1 (TOMMO)
            T=0.000342/1 (KOREAN)
            T=0.000546/1 (Korea1K)
            HGVS:
            6.

            rs1488294603 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              11:5883696 (GRCh38)
              11:5904926 (GRCh37)
              Canonical SPDI:
              NC_000011.10:5883695:A:C
              Gene:
              OR52E4 (Varview), LOC112268071 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1487522574 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                11:5884433 (GRCh38)
                11:5905663 (GRCh37)
                Canonical SPDI:
                NC_000011.10:5884432:T:G
                Gene:
                OR52E4 (Varview), LOC112268071 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1485225259 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  11:5882860 (GRCh38)
                  11:5904090 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:5882859:C:A
                  Gene:
                  OR52E4 (Varview), LOC112268071 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1483756661 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:5883154 (GRCh38)
                    11:5904384 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:5883153:A:G
                    Gene:
                    OR52E4 (Varview), LOC112268071 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000142/2 (ALFA)
                    G=0.000008/2 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1483701462 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      11:5883069 (GRCh38)
                      11:5904299 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:5883068:T:G
                      Gene:
                      OR52E4 (Varview), LOC112268071 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1483430348 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        11:5884108 (GRCh38)
                        11:5905338 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:5884107:G:T
                        Gene:
                        OR52E4 (Varview), LOC112268071 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        T=0.000106/2 (TOMMO)
                        HGVS:
                        12.

                        rs1481738250 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:5883979 (GRCh38)
                          11:5905209 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:5883978:G:A
                          Gene:
                          OR52E4 (Varview), LOC112268071 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1480177628 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            11:5885180 (GRCh38)
                            11:5906410 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:5885179:G:T
                            Gene:
                            OR52E4 (Varview), LOC112268071 (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            HGVS:
                            14.

                            rs1478777520 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:5884980 (GRCh38)
                              11:5906210 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:5884979:C:T
                              Gene:
                              OR52E4 (Varview), LOC112268071 (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1478448648 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                11:5885250 (GRCh38)
                                11:5906480 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:5885249:A:G,NC_000011.10:5885249:A:T
                                Gene:
                                OR52E4 (Varview), LOC112268071 (Varview)
                                Functional Consequence:
                                intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1477876596 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  11:5883749 (GRCh38)
                                  11:5904979 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:5883748:C:A
                                  Gene:
                                  OR52E4 (Varview), LOC112268071 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1477538063 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:5884464 (GRCh38)
                                    11:5905694 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:5884463:C:T
                                    Gene:
                                    OR52E4 (Varview), LOC112268071 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1477501804 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      11:5884260 (GRCh38)
                                      11:5905490 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:5884259:A:G
                                      Gene:
                                      OR52E4 (Varview), LOC112268071 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      G=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1477308247 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        11:5882948 (GRCh38)
                                        11:5904178 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:5882947:A:G
                                        Gene:
                                        OR52E4 (Varview), LOC112268071 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1475981735 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GTCT>- [Show Flanks]
                                          Chromosome:
                                          11:5883691 (GRCh38)
                                          11:5904921 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:5883689:TGTCT:T
                                          Gene:
                                          OR52E4 (Varview), LOC112268071 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:

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